Patient-based Registry

Publications

2024

  • Developmental effect of RASopathy mutations on neuronal network activity on a chip
    Weiss E-M, Guhathakurta D, Petrušková A, Hundrup V, Zenker M and Fejtová A
    Front. Cell. Neurosci. 18:1388409.(2024)
    doi: 10.3389/fncel.2024.1388409

    Summary

    In this study, we explored how RASopathy mutations affect the development and function of neuronal networks. We cultured cortical neurons form RASopathy mouse models on multielectrode arrays and recorded their activity over time.
    We developed MATLAB-based tools to handle the large data sets from these recordings and applied machine-learning methods.
    Our analysis showed that neurons with Noonan syndrome-related mutations displayed a common developmental pattern. This pattern was more noticeable early on and diminished over time, indicating possible compensatory mechanisms during network maturation. Despite this, mature networks still showed differences on excitatory/inhibitory balance and network excitability.
    This research enhances our understanding of how genetic mutations in RASopathies translate to clinical symptoms by shedding light on the underlying functional network processes.